{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355766290",
  "communityStandardTitle": [
    "NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790374[alleleid]",
        "alleleId": 790374,
        "preferredName": "NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/802037",
        "RCV": [
          "RCV000987375"
        ],
        "variationId": 802037
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.190122715G>C?assembly=hg19",
        "id": "chr3:g.190122715G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.190404926G>C?assembly=hg38",
        "id": "chr3:g.190404926G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1577430815",
        "rs": 1577430815
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 190404926,
          "referenceAllele": "G",
          "start": 190404925
        }
      ],
      "hgvs": [
        "NC_000003.12:g.190404926G>C",
        "CM000665.2:g.190404926G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 190122715,
          "referenceAllele": "G",
          "start": 190122714
        }
      ],
      "hgvs": [
        "NC_000003.11:g.190122715G>C",
        "CM000665.1:g.190122715G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 191605409,
          "referenceAllele": "G",
          "start": 191605408
        }
      ],
      "hgvs": [
        "NC_000003.10:g.191605409G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21875,
          "referenceAllele": "G",
          "start": 21874
        }
      ],
      "hgvs": [
        "NG_008149.1:g.21875G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000895"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000264734.3:c.382G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264734.3:p.Gly128Arg",
        "hgvsWellDefined": "ENSP00000264734.3:p.Gly128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742723",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264734.3:c.382G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006580.4:c.382G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264734.3:p.Gly128Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006571.2:p.Gly128Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 4976,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000456423.2:c.115-4977G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414136.2:n.115-4977G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000264734.2:c.592G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264734.2:p.Gly198Arg",
        "hgvsWellDefined": "ENSP00000264734.2:p.Gly198Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251579"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 324,
          "endIntronDirection": "-",
          "endIntronOffset": 4976,
          "referenceAllele": "G",
          "start": 324,
          "startIntronDirection": "-",
          "startIntronOffset": 4977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000456423.1:c.325-4977G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414136.1:n.325-4977G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 574,
          "referenceAllele": "G",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "ENST00000468220.1:n.574G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915979414",
      "coordinates": [
        {
          "allele": "C",
          "end": 840,
          "referenceAllele": "G",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_006580.3:c.592G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006571.1:p.Gly198Arg",
        "hgvsWellDefined": "NP_006571.1:p.Gly198Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828782661",
      "coordinates": [
        {
          "allele": "C",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_001378492.1:c.382G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365421.1:p.Gly128Arg",
        "hgvsWellDefined": "NP_001365421.1:p.Gly128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721735"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828782761",
      "coordinates": [
        {
          "allele": "C",
          "end": 891,
          "referenceAllele": "G",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_001378493.1:c.382G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365422.1:p.Gly128Arg",
        "hgvsWellDefined": "NP_001365422.1:p.Gly128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721736"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573088778",
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002037",
      "geneNCBI_id": 10686,
      "geneSymbol": "CLDN16",
      "hgvs": [
        "NM_006580.4:c.382G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_006571.2:p.Gly128Arg",
        "hgvsWellDefined": "NP_006571.2:p.Gly128Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264734.3:c.382G>C"
          },
          "RefSeq": {
            "hgvs": "NM_006580.4:c.382G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264734.3:p.Gly128Arg"
          },
          "RefSeq": {
            "hgvs": "NP_006571.2:p.Gly128Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}